dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs28371725
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:42127803 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.070252 (18595/264690, TOPMED)T=0.080730 (20150/249596, GnomAD_exome)T=0.067361 (9380/139250, GnomAD) (+ 22 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP2D6 : Intron Variant
- Publications
- 46 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 43504 | C=0.90893 | T=0.09107 | 0.83105 | 0.013194 | 0.155756 | 32 |
| European | Sub | 29046 | C=0.89579 | T=0.10421 | 0.808511 | 0.016939 | 0.174551 | 32 |
| African | Sub | 3852 | C=0.9611 | T=0.0389 | 0.92783 | 0.005711 | 0.066459 | 13 |
| African Others | Sub | 122 | C=0.975 | T=0.025 | 0.95082 | 0.0 | 0.04918 | 0 |
| African American | Sub | 3730 | C=0.9606 | T=0.0394 | 0.927078 | 0.005898 | 0.067024 | 14 |
| Asian | Sub | 234 | C=0.957 | T=0.043 | 0.931624 | 0.017094 | 0.051282 | 9 |
| East Asian | Sub | 174 | C=0.954 | T=0.046 | 0.931034 | 0.022989 | 0.045977 | 11 |
| Other Asian | Sub | 60 | C=0.97 | T=0.03 | 0.933333 | 0.0 | 0.066667 | 0 |
| Latin American 1 | Sub | 218 | C=0.881 | T=0.119 | 0.779817 | 0.018349 | 0.201835 | 0 |
| Latin American 2 | Sub | 4670 | C=0.9623 | T=0.0377 | 0.925054 | 0.000428 | 0.074518 | 1 |
| South Asian | Sub | 114 | C=0.886 | T=0.114 | 0.789474 | 0.017544 | 0.192982 | 0 |
| Other | Sub | 5370 | C=0.8957 | T=0.1043 | 0.800372 | 0.008939 | 0.190689 | 1 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.929748 | T=0.070252 |
| gnomAD - Exomes | Global | Study-wide | 249596 | C=0.919270 | T=0.080730 |
| gnomAD - Exomes | European | Sub | 134238 | C=0.916201 | T=0.083799 |
| gnomAD - Exomes | Asian | Sub | 48874 | C=0.90326 | T=0.09674 |
| gnomAD - Exomes | American | Sub | 34520 | C=0.96005 | T=0.03995 |
| gnomAD - Exomes | African | Sub | 15814 | C=0.97243 | T=0.02757 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10048 | C=0.82375 | T=0.17625 |
| gnomAD - Exomes | Other | Sub | 6102 | C=0.9038 | T=0.0962 |
| gnomAD - Genomes | Global | Study-wide | 139250 | C=0.932639 | T=0.067361 |
| gnomAD - Genomes | European | Sub | 75606 | C=0.91412 | T=0.08588 |
| gnomAD - Genomes | African | Sub | 41504 | C=0.97359 | T=0.02641 |
| gnomAD - Genomes | American | Sub | 13568 | C=0.93396 | T=0.06604 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3318 | C=0.8162 | T=0.1838 |
| gnomAD - Genomes | East Asian | Sub | 3114 | C=0.9653 | T=0.0347 |
| gnomAD - Genomes | Other | Sub | 2140 | C=0.9173 | T=0.0827 |
| ExAC | Global | Study-wide | 119630 | C=0.919184 | T=0.080816 |
| ExAC | Europe | Sub | 72268 | C=0.91144 | T=0.08856 |
| ExAC | Asian | Sub | 25068 | C=0.90063 | T=0.09937 |
| ExAC | American | Sub | 11530 | C=0.96513 | T=0.03487 |
| ExAC | African | Sub | 9858 | C=0.9704 | T=0.0296 |
| ExAC | Other | Sub | 906 | C=0.908 | T=0.092 |
| Allele Frequency Aggregator | Total | Global | 43504 | C=0.90893 | T=0.09107 |
| Allele Frequency Aggregator | European | Sub | 29046 | C=0.89579 | T=0.10421 |
| Allele Frequency Aggregator | Other | Sub | 5370 | C=0.8957 | T=0.1043 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 4670 | C=0.9623 | T=0.0377 |
| Allele Frequency Aggregator | African | Sub | 3852 | C=0.9611 | T=0.0389 |
| Allele Frequency Aggregator | Asian | Sub | 234 | C=0.957 | T=0.043 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 218 | C=0.881 | T=0.119 |
| Allele Frequency Aggregator | South Asian | Sub | 114 | C=0.886 | T=0.114 |
| 14KJPN | JAPANESE | Study-wide | 28174 | C=0.98939 | T=0.01061 |
| 8.3KJPN | JAPANESE | Study-wide | 16718 | C=0.98864 | T=0.01136 |
| GO Exome Sequencing Project | Global | Study-wide | 12980 | C=0.92242 | T=0.07758 |
| GO Exome Sequencing Project | European American | Sub | 8592 | C=0.9000 | T=0.1000 |
| GO Exome Sequencing Project | African American | Sub | 4388 | C=0.9663 | T=0.0337 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9386 | T=0.0614 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9832 | T=0.0168 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.9092 | T=0.0908 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.8810 | T=0.1190 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9658 | T=0.0342 |
| 1000Genomes_30x | American | Sub | 980 | C=0.934 | T=0.066 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9365 | T=0.0635 |
| 1000Genomes | African | Sub | 1322 | C=0.9818 | T=0.0182 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9623 | T=0.0377 |
| 1000Genomes | Europe | Sub | 1006 | C=0.9066 | T=0.0934 |
| 1000Genomes | South Asian | Sub | 978 | C=0.878 | T=0.122 |
| 1000Genomes | American | Sub | 694 | C=0.938 | T=0.062 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.9004 | T=0.0996 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.9053 | T=0.0947 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2918 | C=0.9722 | T=0.0278 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.906 | T=0.094 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 778 | C=0.978 | T=0.022 |
| CNV burdens in cranial meningiomas | CRM | Sub | 778 | C=0.978 | T=0.022 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 608 | C=0.959 | T=0.041 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.928 | T=0.072 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.919 | T=0.081 |
| PharmGKB Aggregated | Global | Study-wide | 358 | C=0.955 | T=0.045 |
| PharmGKB Aggregated | PA149579763 | Sub | 358 | C=0.955 | T=0.045 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.977 | T=0.023 |
| Qatari | Global | Study-wide | 214 | C=0.850 | T=0.150 |
| SGDP_PRJ | Global | Study-wide | 60 | C=0.43 | T=0.57 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.93 | T=0.07 |
| Siberian | Global | Study-wide | 8 | C=0.5 | T=0.5 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.42127803C>A |
| GRCh38.p14 chr 22 | NC_000022.11:g.42127803C>G |
| GRCh38.p14 chr 22 | NC_000022.11:g.42127803C>T |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.8008G>T |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.8008G>C |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.8008G>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.5544C>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.5544C>G |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.5544C>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.21392C>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.21392C>G |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.21392C>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.13369C>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.13369C>G |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.13369C>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.50130C>A |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.50130C>G |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.50130C>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.50144C>A |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.50144C>G |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.50144C>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.42523805C>A |
| GRCh37.p13 chr 22 | NC_000022.10:g.42523805C>G |
| GRCh37.p13 chr 22 | NC_000022.10:g.42523805C>T |
Gene: CYP2D6, cytochrome P450 family 2 subfamily D member 6
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP2D6 transcript variant 1 | NM_000106.6:c.985+39G>T | N/A | Intron Variant |
| CYP2D6 transcript variant 2 | NM_001025161.3:c.832+39G>T | N/A | Intron Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: T (allele ID:
47984
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000734619.5 | not provided | Likely-Benign,Other |
| RCV001029627.2 | Tramadol response | Drug-Response |
| RCV001030446.2 | Deutetrabenazine response | Drug-Response |
| RCV001093719.2 | Tamoxifen response | Drug-Response |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.42127803= | NC_000022.11:g.42127803C>A | NC_000022.11:g.42127803C>G | NC_000022.11:g.42127803C>T |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.8008= | NG_008376.4:g.8008G>T | NG_008376.4:g.8008G>C | NG_008376.4:g.8008G>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.5544= | NW_015148968.1:g.5544C>A | NW_015148968.1:g.5544C>G | NW_015148968.1:g.5544C>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.21392= | NW_014040931.1:g.21392C>A | NW_014040931.1:g.21392C>G | NW_014040931.1:g.21392C>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.13369= | NW_009646208.1:g.13369C>A | NW_009646208.1:g.13369C>G | NW_009646208.1:g.13369C>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.50130= | NW_004504305.1:g.50130C>A | NW_004504305.1:g.50130C>G | NW_004504305.1:g.50130C>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.50144= | NT_187682.1:g.50144C>A | NT_187682.1:g.50144C>G | NT_187682.1:g.50144C>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.42523805= | NC_000022.10:g.42523805C>A | NC_000022.10:g.42523805C>G | NC_000022.10:g.42523805C>T |
| CYP2D6 transcript variant 1 | NM_000106.5:c.985+39= | NM_000106.5:c.985+39G>T | NM_000106.5:c.985+39G>C | NM_000106.5:c.985+39G>A |
| CYP2D6 transcript variant 1 | NM_000106.6:c.985+39= | NM_000106.6:c.985+39G>T | NM_000106.6:c.985+39G>C | NM_000106.6:c.985+39G>A |
| CYP2D6 transcript variant 2 | NM_001025161.2:c.832+39= | NM_001025161.2:c.832+39G>T | NM_001025161.2:c.832+39G>C | NM_001025161.2:c.832+39G>A |
| CYP2D6 transcript variant 2 | NM_001025161.3:c.832+39= | NM_001025161.3:c.832+39G>T | NM_001025161.3:c.832+39G>C | NM_001025161.3:c.832+39G>A |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
84 SubSNP,
24 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BIOVENTURES | ss32476060 | May 24, 2005 (125) |
| 2 | PHARMGKB_AB_DME | ss84158060 | Dec 14, 2007 (130) |
| 3 | SNP500CANCER | ss105439396 | Feb 04, 2009 (130) |
| 4 | GMI | ss157217230 | Dec 01, 2009 (131) |
| 5 | EGP_SNPS | ss159831314 | Dec 01, 2009 (131) |
| 6 | ILLUMINA | ss160586167 | Dec 01, 2009 (131) |
| 7 | BCM-HGSC-SUB | ss208851010 | Jul 04, 2010 (132) |
| 8 | 1000GENOMES | ss238081963 | Jul 15, 2010 (132) |
| 9 | GMI | ss283649244 | May 04, 2012 (137) |
| 10 | ILLUMINA | ss481558931 | Sep 08, 2015 (146) |
| 11 | 1000GENOMES | ss491194342 | May 04, 2012 (137) |
| 12 | CLINSEQ_SNP | ss491825722 | May 04, 2012 (137) |
| 13 | ILLUMINA | ss536449976 | Sep 08, 2015 (146) |
| 14 | TISHKOFF | ss566667067 | Apr 25, 2013 (138) |
| 15 | SSMP | ss662596355 | Apr 25, 2013 (138) |
| 16 | NHLBI-ESP | ss713628869 | Apr 25, 2013 (138) |
| 17 | EVA-GONL | ss995393787 | Aug 21, 2014 (142) |
| 18 | JMKIDD_LAB | ss1067607073 | Aug 21, 2014 (142) |
| 19 | 1000GENOMES | ss1367336054 | Aug 21, 2014 (142) |
| 20 | DDI | ss1429268122 | Apr 01, 2015 (144) |
| 21 | CLINVAR | ss1457608666 | Nov 23, 2014 (136) |
| 22 | EVA_GENOME_DK | ss1579767140 | Apr 01, 2015 (144) |
| 23 | EVA_FINRISK | ss1584128340 | Apr 01, 2015 (144) |
| 24 | EVA_UK10K_ALSPAC | ss1640083667 | Apr 01, 2015 (144) |
| 25 | EVA_UK10K_TWINSUK | ss1683077700 | Apr 01, 2015 (144) |
| 26 | EVA_EXAC | ss1694379102 | Apr 01, 2015 (144) |
| 27 | EVA_DECODE | ss1699465061 | Apr 01, 2015 (144) |
| 28 | EVA_MGP | ss1711571571 | Apr 01, 2015 (144) |
| 29 | WEILL_CORNELL_DGM | ss1938961270 | Feb 12, 2016 (147) |
| 30 | ILLUMINA | ss1959984036 | Feb 12, 2016 (147) |
| 31 | JJLAB | ss2030253484 | Sep 14, 2016 (149) |
| 32 | USC_VALOUEV | ss2158873701 | Dec 20, 2016 (150) |
| 33 | GRF | ss2704626586 | Nov 08, 2017 (151) |
| 34 | ILLUMINA | ss2710959473 | Nov 08, 2017 (151) |
| 35 | GNOMAD | ss2745191449 | Nov 08, 2017 (151) |
| 36 | GNOMAD | ss2750571586 | Nov 08, 2017 (151) |
| 37 | GNOMAD | ss2974893453 | Nov 08, 2017 (151) |
| 38 | AFFY | ss2985857657 | Nov 08, 2017 (151) |
| 39 | SWEGEN | ss3019375486 | Nov 08, 2017 (151) |
| 40 | ILLUMINA | ss3022190889 | Nov 08, 2017 (151) |
| 41 | BIOINF_KMB_FNS_UNIBA | ss3028962577 | Nov 08, 2017 (151) |
| 42 | CSIRBIOHTS | ss3029638767 | Nov 08, 2017 (151) |
| 43 | ILLUMINA | ss3628544564 | Oct 12, 2018 (152) |
| 44 | ILLUMINA | ss3636565844 | Oct 12, 2018 (152) |
| 45 | OMUKHERJEE_ADBS | ss3646568216 | Oct 12, 2018 (152) |
| 46 | ILLUMINA | ss3652655241 | Oct 12, 2018 (152) |
| 47 | EVA_DECODE | ss3708287338 | Jul 13, 2019 (153) |
| 48 | ACPOP | ss3743969257 | Jul 13, 2019 (153) |
| 49 | EVA | ss3759434292 | Jul 13, 2019 (153) |
| 50 | KHV_HUMAN_GENOMES | ss3822593674 | Jul 13, 2019 (153) |
| 51 | EVA | ss3825454791 | Apr 27, 2020 (154) |
| 52 | EVA | ss3825972707 | Apr 27, 2020 (154) |
| 53 | EVA | ss3836012228 | Apr 27, 2020 (154) |
| 54 | SGDP_PRJ | ss3890637644 | Apr 27, 2020 (154) |
| 55 | KRGDB | ss3941034953 | Apr 27, 2020 (154) |
| 56 | FSA-LAB | ss3984237311 | Apr 26, 2021 (155) |
| 57 | EVA | ss3984761198 | Apr 26, 2021 (155) |
| 58 | EVA | ss3986866440 | Apr 26, 2021 (155) |
| 59 | VINODS | ss4034712626 | Apr 26, 2021 (155) |
| 60 | VINODS | ss4034758249 | Apr 26, 2021 (155) |
| 61 | TOPMED | ss5110780116 | Apr 26, 2021 (155) |
| 62 | TOMMO_GENOMICS | ss5232837050 | Apr 26, 2021 (155) |
| 63 | EVA | ss5236992019 | Apr 26, 2021 (155) |
| 64 | 1000G_HIGH_COVERAGE | ss5311255575 | Oct 16, 2022 (156) |
| 65 | EVA | ss5441587483 | Oct 16, 2022 (156) |
| 66 | HUGCELL_USP | ss5503082642 | Oct 16, 2022 (156) |
| 67 | EVA | ss5512393100 | Oct 16, 2022 (156) |
| 68 | EVA | ss5512473997 | Oct 16, 2022 (156) |
| 69 | 1000G_HIGH_COVERAGE | ss5618884697 | Oct 16, 2022 (156) |
| 70 | EVA | ss5624123267 | Oct 16, 2022 (156) |
| 71 | SANFORD_IMAGENETICS | ss5664576673 | Oct 16, 2022 (156) |
| 72 | TOMMO_GENOMICS | ss5794029014 | Oct 16, 2022 (156) |
| 73 | EVA | ss5799405027 | Oct 16, 2022 (156) |
| 74 | EVA | ss5800236721 | Oct 16, 2022 (156) |
| 75 | YY_MCH | ss5818748089 | Oct 16, 2022 (156) |
| 76 | EVA | ss5822131210 | Oct 16, 2022 (156) |
| 77 | EVA | ss5847519177 | Oct 16, 2022 (156) |
| 78 | EVA | ss5847946427 | Oct 16, 2022 (156) |
| 79 | EVA | ss5848570297 | Oct 16, 2022 (156) |
| 80 | EVA | ss5853409967 | Oct 16, 2022 (156) |
| 81 | EVA | ss5936464491 | Oct 16, 2022 (156) |
| 82 | EVA | ss5959434890 | Oct 16, 2022 (156) |
| 83 | EVA | ss5979638953 | Oct 16, 2022 (156) |
| 84 | EVA | ss5981322712 | Oct 16, 2022 (156) |
| 85 | 1000Genomes | NC_000022.10 - 42523805 | Oct 12, 2018 (152) |
| 86 | 1000Genomes_30x | NC_000022.11 - 42127803 | Oct 16, 2022 (156) |
| 87 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 42523805 | Oct 12, 2018 (152) |
| 88 | ExAC | NC_000022.10 - 42523805 | Oct 12, 2018 (152) |
| 89 | FINRISK | NC_000022.10 - 42523805 | Apr 27, 2020 (154) |
| 90 | The Danish reference pan genome | NC_000022.10 - 42523805 | Apr 27, 2020 (154) |
| 91 | gnomAD - Genomes | NC_000022.11 - 42127803 | Apr 26, 2021 (155) |
| 92 | gnomAD - Exomes | NC_000022.10 - 42523805 | Jul 13, 2019 (153) |
| 93 | GO Exome Sequencing Project | NC_000022.10 - 42523805 | Oct 12, 2018 (152) |
| 94 | Genome of the Netherlands Release 5 | NC_000022.10 - 42523805 | Apr 27, 2020 (154) |
| 95 | KOREAN population from KRGDB | NC_000022.10 - 42523805 | Apr 27, 2020 (154) |
| 96 | Medical Genome Project healthy controls from Spanish population | NC_000022.10 - 42523805 | Apr 27, 2020 (154) |
| 97 | Northern Sweden | NC_000022.10 - 42523805 | Jul 13, 2019 (153) |
| 98 | CNV burdens in cranial meningiomas | NC_000022.10 - 42523805 | Apr 26, 2021 (155) |
| 99 | PharmGKB Aggregated | NC_000022.11 - 42127803 | Apr 27, 2020 (154) |
| 100 | Qatari | NC_000022.10 - 42523805 | Apr 27, 2020 (154) |
| 101 | SGDP_PRJ | NC_000022.10 - 42523805 | Apr 27, 2020 (154) |
| 102 | Siberian | NC_000022.10 - 42523805 | Apr 27, 2020 (154) |
| 103 | 8.3KJPN | NC_000022.10 - 42523805 | Apr 26, 2021 (155) |
| 104 | 14KJPN | NC_000022.11 - 42127803 | Oct 16, 2022 (156) |
| 105 | TopMed | NC_000022.11 - 42127803 | Apr 26, 2021 (155) |
| 106 | UK 10K study - Twins | NC_000022.10 - 42523805 | Oct 12, 2018 (152) |
| 107 | A Vietnamese Genetic Variation Database | NC_000022.10 - 42523805 | Jul 13, 2019 (153) |
| 108 | ALFA | NC_000022.11 - 42127803 | Apr 26, 2021 (155) |
| 109 | ClinVar | RCV000734619.5 | Oct 16, 2022 (156) |
| 110 | ClinVar | RCV001029627.2 | Oct 16, 2022 (156) |
| 111 | ClinVar | RCV001030446.2 | Oct 16, 2022 (156) |
| 112 | ClinVar | RCV001093719.2 | Oct 16, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs57124011 | May 23, 2008 (130) |
| rs587777916 | Feb 02, 2015 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5512473997 | NC_000022.10:42523804:C:A | NC_000022.11:42127802:C:A | |
| ss5936464491 | NC_000022.10:42523804:C:G | NC_000022.11:42127802:C:G | |
| ss208851010, ss283649244, ss491825722, ss1699465061 | NC_000022.9:40853748:C:T | NC_000022.11:42127802:C:T | (self) |
| 80894469, 44747519, 5962388, 124801, 5932079, 14524175, 1911621, 19935851, 48212347, 687331, 17254122, 310785, 21003192, 42654624, 11390055, 90806357, 44747519, 9868422, ss238081963, ss481558931, ss491194342, ss536449976, ss566667067, ss662596355, ss713628869, ss995393787, ss1067607073, ss1367336054, ss1429268122, ss1579767140, ss1584128340, ss1640083667, ss1683077700, ss1694379102, ss1711571571, ss1938961270, ss1959984036, ss2030253484, ss2158873701, ss2704626586, ss2710959473, ss2745191449, ss2750571586, ss2974893453, ss2985857657, ss3019375486, ss3022190889, ss3029638767, ss3628544564, ss3636565844, ss3646568216, ss3652655241, ss3743969257, ss3759434292, ss3825454791, ss3825972707, ss3836012228, ss3890637644, ss3941034953, ss3984237311, ss3984761198, ss3986866440, ss5232837050, ss5441587483, ss5512393100, ss5512473997, ss5624123267, ss5664576673, ss5799405027, ss5800236721, ss5822131210, ss5847519177, ss5847946427, ss5848570297, ss5936464491, ss5959434890, ss5979638953, ss5981322712 | NC_000022.10:42523804:C:T | NC_000022.11:42127802:C:T | (self) |
| RCV000734619.5, RCV001029627.2, RCV001030446.2, RCV001093719.2, 106410632, 571269516, 7680, 127866118, 385889063, 371282215, ss3028962577, ss3708287338, ss3822593674, ss5110780116, ss5236992019, ss5311255575, ss5503082642, ss5618884697, ss5794029014, ss5818748089, ss5853409967 | NC_000022.11:42127802:C:T | NC_000022.11:42127802:C:T | (self) |
| ss32476060, ss84158060, ss105439396, ss157217230, ss159831314, ss160586167 | NT_011520.12:21914373:C:T | NC_000022.11:42127802:C:T | (self) |
| ss1457608666 | NT_011520.13:23418238:C:T | NC_000022.11:42127802:C:T | (self) |
| ss4034758249 | NT_187682.1:50143:C:T | NC_000022.11:42127802:C:T | (self) |
| ss4034712626 | NW_004504305.1:50129:C:T | NC_000022.11:42127802:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
46
citations for rs28371725
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 19639055 | ||||
| 20174590 | Response to serotonin reuptake inhibitors in OCD is not influenced by common CYP2D6 polymorphisms. | Van Nieuwerburgh FC et al. | 2009 | International journal of psychiatry in clinical practice |
| 20548328 | High-efficiency genotype analysis from formalin-fixed, paraffin-embedded tumor tissues. | Sikora MJ et al. | 2011 | The pharmacogenomics journal |
| 20650817 | Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes. | Cooper DN et al. | 2010 | Human genomics |
| 20847277 | Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification. | Baak-Pablo R et al. | 2010 | The Journal of molecular diagnostics |
| 21071160 | Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population. | Shi Y et al. | 2011 | Forensic science international |
| 21192344 | CYP2C19 variation and citalopram response. | Mrazek DA et al. | 2011 | Pharmacogenetics and genomics |
| 21289622 | Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. | Sadee W et al. | 2011 | Clinical pharmacology and therapeutics |
| 21480951 | Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients. | Lim JS et al. | 2011 | British journal of clinical pharmacology |
| 21790905 | CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction. | Levran O et al. | 2013 | Addiction biology |
| 22448283 | Genotyping performance between saliva and blood-derived genomic DNAs on the DMET array: a comparison. | Hu Y et al. | 2012 | PloS one |
| 22479249 | Whole genome amplification of DNA for genotyping pharmacogenetics candidate genes. | Philips S et al. | 2012 | Frontiers in pharmacology |
| 22482072 | Genomics of Dementia: APOE- and CYP2D6-Related Pharmacogenetics. | Cacabelos R et al. | 2012 | International journal of Alzheimer's disease |
| 24200957 | Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit. | Camilleri M et al. | 2014 | American journal of physiology. Gastrointestinal and liver physiology |
| 24798984 | Developing and Evaluating the HRM Technique for Identifying Cytochrome P450 2D6 Polymorphisms. | Lu HC et al. | 2015 | Journal of clinical laboratory analysis |
| 24868171 | Possible impact of the CYP2D6*10 polymorphism on the nonlinear pharmacokinetic parameter estimates of paroxetine in Japanese patients with major depressive disorders. | Saruwatari J et al. | 2014 | Pharmacogenomics and personalized medicine |
| 25266489 | Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. | Zhang J et al. | 2014 | BMC genetics |
| 25419701 | Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations. | Bonifaz-Peña V et al. | 2014 | PloS one |
| 26091847 | Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. | Wang L et al. | 2015 | BMC genetics |
| 26369774 | Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. | Maggo SD et al. | 2016 | Clinical pharmacokinetics |
| 26793106 | CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 (*) 15 and (*) 35 Genotyping. | Riffel AK et al. | 2015 | Frontiers in pharmacology |
| 26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
| 27108086 | Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method. | Ben S et al. | 2016 | Human genomics |
| 27171561 | Liver Function Test Abnormalities in Depressed Patients Treated with Antidepressants: A Real-World Systematic Observational Study in Psychiatric Settings. | Voican CS et al. | 2016 | PloS one |
| 27233804 | Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. | Jin T et al. | 2016 | BMC genetics |
| 27467145 | Variation in Human Cytochrome P-450 Drug-Metabolism Genes: A Gateway to the Understanding of Plasmodium vivax Relapses. | Silvino AC et al. | 2016 | PloS one |
| 27785397 | CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia. | Kuzmanovska M et al. | 2015 | Balkan journal of medical genetics |
| 27942231 | CYP2D6 polymorphisms and their influence on risperidone treatment. | Puangpetch A et al. | 2016 | Pharmacogenomics and personalized medicine |
| 28178648 | Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. | Kuo SH et al. | 2017 | Oncotarget |
| 29193749 | Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. | Borobia AM et al. | 2018 | Clinical and translational science |
| 29369497 | Pharmacogenetics of Risperidone-Induced Insulin Resistance in Children and Adolescents with Autism Spectrum Disorder. | Sukasem C et al. | 2018 | Basic & clinical pharmacology & toxicology |
| 29750612 | Higher than expected clozapine serum level and clozapine/norclozapine ratio due to CYP450 gene polymorphisms. | Caetano D et al. | 2015 | Personalized medicine |
| 29789925 | Associations of polymorphisms of CYP2D6 and CYP2C9 with early onset severe pre-eclampsia and response to labetalol therapy. | Sun CJ et al. | 2018 | Archives of gynecology and obstetrics |
| 30068618 | Cohort Profile: the Predictors of Breast Cancer Recurrence (ProBe CaRE) Premenopausal Breast Cancer Cohort Study in Denmark. | Collin LJ et al. | 2018 | BMJ open |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 30452466 | Characterization of ADME genes variation in Roma and 20 populations worldwide. | Škarić-Jurić T et al. | 2018 | PloS one |
| 31019283 | Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. | Thauvin-Robinet C et al. | 2019 | European journal of human genetics |
| 31270413 | ||||
| 31858263 | Defining screening panel of functional variants of CYP1A1, CYP2C9, CYP2C19, CYP2D6, and CYP3A4 genes in Serbian population. | Skadrić I et al. | 2020 | International journal of legal medicine |
| 32639515 | Bayesian Pathway Analysis for Complex Interactions. | Baurley JW et al. | 2020 | American journal of epidemiology |
| 33262486 | Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters. | 2020 | European journal of human genetics | |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34366834 | CYP2D6 Allele Frequency in Five Malaria Vivax Endemic Areas From Brazilian Amazon Region. | Salles PF et al. | 2021 | Frontiers in pharmacology |
| 34385834 | Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process. | Borro M et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
| 34958284 | Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes. | Muyambo S et al. | 2022 | Omics |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.